المؤلفون: Julián Nevado, Sixto García-Miñaúr, María Palomares-Bralo, Elena Vallespín, Encarna Guillén-Navarro, Jordi Rosell, Cristina Bel-Fenellós, María Ángeles Mori, Montserrat Milá, Miguel del Campo, Pilar Barrúz, Fernando Santos-Simarro, Gabriela Obregón, Carmen Orellana, Harry Pachajoa, Jair Antonio Tenorio, Enrique Galán, Juan C. Cigudosa, Angélica Moresco, César Saleme, Silvia Castillo, Elisabeth Gabau, Luis Pérez-Jurado, Ana Barcia, Maria Soledad Martín, Elena Mansilla, Isabel Vallcorba, Pedro García-Murillo, Franco Cammarata-Scalisi, Natálya Gonçalves Pereira, Raquel Blanco-Lago, Mercedes Serrano, Juan Dario Ortigoza-Escobar, Blanca Gener, Verónica Adriana Seidel, Pilar Tirado, Pablo Lapunzina, Spanish PMS Working Group, Mena Rocío, Lleguer Roser, Fernández-Montaño Victoria, Martín Rubén, Fernández Blanca, García-Santiago Fé, Gómez del Pozo Victoria, Peña Carolina, Alhambra Norma, García Carlos, Rodríguez Juan Ramón, Martínez-Bermejo Antonio, Málaga Ignacio, Martínez-Monseny Antonio Federico, Armstrong Judith, Anticona Jennifer, Hernando-Davalillo Cristina, San Martí Adrián Alcalá, Martorell Loreto, Yubero Delia, Nunes Tania, Callaghan Mar O´, Alonso Xenia, Ramos Federico, López Jesús Casas, López-González Vanesa, M Juliana Ballesta, Armengol Lluís, González-Meneses Antonio, Borrego Salud, Roselló Mónica, Suela Javier, Pérez-Granero Ángeles, Rodríguez-Revenga Laia

المصدر: Frontiers in Genetics, Vol 13 (2022)

مصطلحات موضوعية: autistic behavior, 22q13 deletion syndrome, Phelan-McDermid syndrome (PMS), SHANK3, subtelomeric deletion syndrome, intellectual disabilities (ID), Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2022.652454/fullTest; https://doaj.org/toc/1664-8021Test

الوصول الحر: https://doaj.org/article/45e2ed9b52f940b0bd31664eea90cf57Test

المؤلفون: Prieto Belén, Adiego Begoña, Suela Javier, Martín Inmaculada, Santacruz Belén, García-Planells Javier, Gil Mar, González Concepción, Eva Barrenechea

المصدر: Advances in Laboratory Medicine, Vol 1, Iss 3, Pp 669-81 (2020)

مصطلحات موضوعية: circulating cell-free dna, combined screening, invasive tests, nuchal translucency, Medical technology, R855-855.5

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2628-491XTest

الوصول الحر: https://doaj.org/article/fa7a012747bf43c1ae1f2b8e19852c3cTest

المؤلفون: Prieto-García Belén, Adiego Begoña, Suela Javier, Martín Inmaculada, Santacruz Belén, García-Planells Javier, Gil Mar, González Concepción, Eva Barrenechea

المصدر: Advances in Laboratory Medicine, Vol 1, Iss 3, Pp 669-81 (2020)

مصطلحات موضوعية: adn libre circulante, cribado combinado, pruebas invasivas, translucencia nucal, Medical technology, R855-855.5

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2628-491XTest

الوصول الحر: https://doaj.org/article/6291fb9a8e12456ea2c101faf3256b0bTest

المؤلفون: Rubio-Mangas, David, García-Arranz, Mariano, Torres-Rodriguez, Yaima, León-Arellano, Miguel, Suela, Javier, García-Olmo, Damián

المصدر: BMC Cancer ; volume 23, issue 1 ; ISSN 1471-2407

مصطلحات موضوعية: Cancer Research, Genetics, Oncology

الإتاحة: https://doi.org/10.1186/s12885-022-10459-wTest

المؤلفون: Abulí, Anna, Antolín, Eugenia, Borrell, Antoni, Garcia-Hoyos, Maria, García Santiago, Fe, Gómez Manjón, Irene, Maíz, Nerea, González González, Cristina, Rodríguez-Revenga, Laia, Valenzuena Palafoll, Irene, Suela, Javier

المصدر: Journal of Medical Genetics ; page jmg-2024-109878 ; ISSN 0022-2593 1468-6244

الإتاحة: https://doi.org/10.1136/jmg-2024-109878Test

المؤلفون: Ji, Xing, Li, Jia, Huang, Yonghua, Sung, Pi-Lin, Yuan, Yuying, Liu, Qiang, Chen, Yan, Ju, Jia, Zhou, Yafeng, Huang, Shujia, Chen, Fang, Han, Yuan, Yuan, Wen, Fan, Cheng, Zhao, Qiang, Wu, Haitao, Feng, Suihua, Liu, Weiqiang, Li, Zhihua, Chen, Jingsi, Chen, Min, Yao, Hong, Zeng, Li, Ma, Tao, Fan, Shushu, Zhang, Jinman, Yuen, Ka Yiu, Cheng, So Hin, Chik, Irene Wing Shan, Liu, Nien-Tzu, Zhu, Jianyu, Lin, Siyuan, Cao, Jeremy, Tong, Steve, Shan, Zhiyuan, Li, Wenyan, Hekmat, Mohammad Reza, Garshasbi, Masoud, Suela, Javier, Torres, Yaima, Cigudosa, Juan C., Ruiz, F. J. Pérez, Rodríguez, Laura, García, Mónica, Bernik, Janez, Traven, Eva, Reš, Uršula, Tul, Nataša, Tseng, Ching-Fong, Zhao, Depeng

المساهمون: National Key Research & Development Program of China, Young Scientists Fund of the National Natural Science Foundation of China, Natural Science Foundation of Guangdong Province, Ministry of National Defense, People's Republic of China, the Guangzhou Science and Technology Project, the Pearl River Nova Program of Guangzhou, National Key R&D Program of China, High-level Talents of Guangdong

المصدر: Genetics in Medicine ; volume 21, issue 10, page 2293-2302 ; ISSN 1098-3600

مصطلحات موضوعية: Genetics (clinical)

الإتاحة: https://doi.org/10.1038/s41436-019-0510-5Test
http://www.nature.com/articles/s41436-019-0510-5.pdfTest
http://www.nature.com/articles/s41436-019-0510-5Test
https://api.elsevier.com/content/article/PII:S1098360021045093?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1098360021045093?httpAccept=text/plainTest

المؤلفون: Fernández-Jaén, Alberto, Cigudosa, Juan C., Martín Fernández-Mayoralas, Daniel, Suela, Javier, Fernández-Perrone, Ana Laura, Calleja-Pérez, Beatriz, López Martín, Sara

المساهمون: UAM. Departamento de Psicología Biológica y de la Salud

مصطلحات موضوعية: Arrays, Autismo, Discapacidad intelectual, Genética, Trastorno por déficit de atención/hiperactividad, Trastornos del neurodesarrollo, Psicología

وصف الملف: application/pdf

العلاقة: Revista de Neurología; Revista de Neurología 58. Supl 1 (2014): 565-570; 0210-0010 (print); 1576-6578 (online); http://hdl.handle.net/10486/668452Test; 565; 570; 58

الإتاحة: http://hdl.handle.net/10486/668452Test

المؤلفون: López, Virginia, González-Peramato, Pilar, Suela, Javier, Serrano, Álvaro, Algaba, Ferrán Arrea, Cigudosa, Juan C Cruz C, Vidal, August U., Bellmunt, Joaquim, Heredero, Oscar, Sánchez-Carbayo, Marta

المساهمون: UAM. Departamento de Anatomía Patológica

مصطلحات موضوعية: Array-CGH, Bladder cancer, FISH, Immunohistochemistry, Tissue arrays, Urine, Medicina

وصف الملف: application/pdf

العلاقة: Journal of Translational Medicine; Journal of Translational Medicine 11.1 (2013): 182; 1479-5876 (online); http://hdl.handle.net/10486/663881Test; 182; 11

الإتاحة: https://doi.org/10.1186/1479-5876-11-182Test
http://hdl.handle.net/10486/663881Test

المؤلفون: Fernandez-Jaen, Alberto, Suela, Javier, Fernandez-Mayoralas, Daniel Martin, Fernandez-Perrone, Ana Laura, Wotton, Karl R., Dietrich, Susanne, Castellanos, Maria Del Carmen, Cigudosa, Juan C., Calleja-Perez, Beatriz, Lopez-Martin, Sara

المصدر: Fernandez-Jaen , A , Suela , J , Fernandez-Mayoralas , D M , Fernandez-Perrone , A L , Wotton , K R , Dietrich , S , Castellanos , M D C , Cigudosa , J C , Calleja-Perez , B & Lopez-Martin , S 2014 , ' Microduplication 10q24.31 in a Spanish girl with scoliosis and myopathy : the critical role of LBX ' American Journal of Medical Genetics. Part A , vol 164 , no. 8 , pp. 2074-2078 . DOI:10.1002/ajmg.a.36589

مصطلحات موضوعية: /dk/atira/pure/core/subjects/biomedicalsciences, Biomedical Sciences

وصف الملف: application/pdf

الإتاحة: https://doi.org/10.1002/ajmg.a.36589Test
https://researchportal.port.ac.uk/portal/en/publications/microduplication-10q2431-in-a-spanish-girl-with-scoliosis-and-myopathyTest(730fa11f-1376-463d-8ad2-f3714f02d904).html
https://researchportal.port.ac.uk/ws/files/2367972/Microduplication_10q24.pdfTest
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=24782348Test

المؤلفون: Ji, Xing, Li, Jia, Huang, Yonghua, Sung, Pi-Lin, Yuan, Yuying, Liu, Qiang, Chen, Yan, Ju, Jia, Zhou, Yafeng, Huang, Shujia, Chen, Fang, Han, Yuan, Yuan, Wen, Fan, Cheng, Zhao, Qiang, Wu, Haitao, Feng, Suihua, Liu, Weiqiang, Li, Zhihua, Chen, Jingsi, Chen, Min, Yao, Hong, Zeng, Li, Ma, Tao, Fan, Shushu, Zhang, Jinman, Yuen, Ka Yiu, Cheng, So Hin, Chik, Irene Wing Shan, Liu, Nien-Tzu, Zhu, Jianyu, Lin, Siyuan, Cao, Jeremy, Tong, Steve, Shan, Zhiyuan, Li, Wenyan, Hekmat, Mohammad Reza, Garshasbi, Masoud, Suela, Javier, Torres, Yaima, Cigudosa, Juan C., Ruiz, F. J. Pérez, Rodriguez, Laura, García, Mónica, Bernik, Janez, Traven, Eva, Res, Ursula, Tul, Natasa, Tseng, Ching-Fong, Zhao, Depeng, Sun, Luming, Pan, Qiong, Shen, Li, Dai, Mengyao, Wang, Yuying, Wang, Jian, Yang, Huanming, Yin, Ye, Duan, Tao, Zhu, Baosheng, Choolani, Mahesh, Jin, Xin, Chen, Yingwei, Mao, Mao

المصدر: Ji , X , Li , J , Huang , Y , Sung , P-L , Yuan , Y , Liu , Q , Chen , Y , Ju , J , Zhou , Y , Huang , S , Chen , F , Han , Y , Yuan , W , Fan , C , Zhao , Q , Wu , H , Feng , S , Liu , W , Li , Z , Chen , J , Chen , M , Yao , H , Zeng , L , Ma , T , Fan , S ....

الإتاحة: https://doi.org/10.1097/01.ogx.0000657372.14204.f0Test
https://curis.ku.dk/portal/da/publications/identifying-occult-maternal-malignancies-from-193-million-pregnant-women-undergoing-noninvasive-prenatal-screening-testsTest(8597cf22-95bc-40d9-ac9f-e8872fc74ce4).html